Incidental Mutation 'R6523:Ldlr'
ID 521506
Institutional Source Beutler Lab
Gene Symbol Ldlr
Ensembl Gene ENSMUSG00000032193
Gene Name low density lipoprotein receptor
Synonyms
MMRRC Submission 044649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6523 (G1)
Quality Score 181.009
Status Validated
Chromosome 9
Chromosomal Location 21634872-21661215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21648549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 285 (C285Y)
Ref Sequence ENSEMBL: ENSMUSP00000149431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034713] [ENSMUST00000213114]
AlphaFold P35951
Predicted Effect probably damaging
Transcript: ENSMUST00000034713
AA Change: C285Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: C285Y

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
LDLa 26 65 1.89e-14 SMART
LDLa 67 106 9.81e-13 SMART
EGF_like 108 144 6.81e1 SMART
LDLa 108 145 3.77e-14 SMART
LDLa 147 186 6.67e-15 SMART
LDLa 197 234 1.16e-14 SMART
LDLa 236 273 3.24e-13 SMART
LDLa 276 316 1e-9 SMART
EGF 318 354 3.2e-4 SMART
EGF_CA 355 394 4.09e-11 SMART
LY 420 462 1.11e-3 SMART
LY 466 508 4.7e-11 SMART
LY 509 552 5.23e-9 SMART
LY 553 595 7.86e-13 SMART
LY 596 639 3.25e-5 SMART
EGF 666 713 7.64e-2 SMART
low complexity region 799 811 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213114
AA Change: C285Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217613
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,160,120 (GRCm39) probably null Het
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gli3 T C 13: 15,888,235 (GRCm39) probably null Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Krt14 T C 11: 100,095,923 (GRCm39) T212A possibly damaging Het
Mark3 G A 12: 111,593,669 (GRCm39) V234I probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Spon1 T A 7: 113,486,018 (GRCm39) D189E probably benign Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L possibly damaging Het
Other mutations in Ldlr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Ldlr APN 9 21,646,657 (GRCm39) critical splice donor site probably null
IGL01975:Ldlr APN 9 21,644,993 (GRCm39) missense probably benign 0.05
IGL02043:Ldlr APN 9 21,644,795 (GRCm39) missense probably benign 0.03
IGL02524:Ldlr APN 9 21,644,977 (GRCm39) missense probably damaging 1.00
IGL03049:Ldlr APN 9 21,657,115 (GRCm39) missense probably benign 0.00
IGL03113:Ldlr APN 9 21,651,124 (GRCm39) missense possibly damaging 0.85
R0240:Ldlr UTSW 9 21,649,295 (GRCm39) splice site probably benign
R0586:Ldlr UTSW 9 21,651,040 (GRCm39) missense probably benign 0.00
R1398:Ldlr UTSW 9 21,650,838 (GRCm39) missense probably benign 0.01
R1587:Ldlr UTSW 9 21,649,209 (GRCm39) missense probably damaging 0.99
R2198:Ldlr UTSW 9 21,643,698 (GRCm39) missense probably damaging 1.00
R3730:Ldlr UTSW 9 21,643,097 (GRCm39) missense probably benign 0.09
R4422:Ldlr UTSW 9 21,649,248 (GRCm39) missense probably damaging 1.00
R5044:Ldlr UTSW 9 21,646,538 (GRCm39) missense probably benign 0.00
R5046:Ldlr UTSW 9 21,657,203 (GRCm39) critical splice donor site probably null
R6186:Ldlr UTSW 9 21,635,055 (GRCm39) start gained probably benign
R6195:Ldlr UTSW 9 21,643,077 (GRCm39) nonsense probably null
R6682:Ldlr UTSW 9 21,643,671 (GRCm39) missense probably benign
R7256:Ldlr UTSW 9 21,657,040 (GRCm39) missense probably benign 0.01
R7384:Ldlr UTSW 9 21,651,090 (GRCm39) missense probably benign 0.07
R7823:Ldlr UTSW 9 21,653,602 (GRCm39) critical splice donor site probably null
R8065:Ldlr UTSW 9 21,649,241 (GRCm39) missense probably damaging 1.00
R8223:Ldlr UTSW 9 21,658,546 (GRCm39) missense probably damaging 1.00
R8732:Ldlr UTSW 9 21,650,985 (GRCm39) missense probably benign 0.00
R8931:Ldlr UTSW 9 21,643,108 (GRCm39) missense probably damaging 0.99
R8954:Ldlr UTSW 9 21,650,828 (GRCm39) missense possibly damaging 0.87
R9315:Ldlr UTSW 9 21,644,782 (GRCm39) splice site probably benign
R9489:Ldlr UTSW 9 21,646,626 (GRCm39) missense probably damaging 1.00
R9517:Ldlr UTSW 9 21,655,240 (GRCm39) missense possibly damaging 0.90
R9605:Ldlr UTSW 9 21,646,626 (GRCm39) missense probably damaging 1.00
R9709:Ldlr UTSW 9 21,657,135 (GRCm39) missense probably benign 0.00
X0024:Ldlr UTSW 9 21,651,114 (GRCm39) missense probably damaging 1.00
Z1177:Ldlr UTSW 9 21,651,126 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACATTAACTTCCTGTCTGCCTG -3'
(R):5'- GCGAGCCTTTTACATGCTGC -3'

Sequencing Primer
(F):5'- TCAGTGACAGAGCACTTGTC -3'
(R):5'- TTACATGCTGCGGGGGC -3'
Posted On 2018-06-06